Cargando…

Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population

BACKGROUND: Hailey-Hailey disease (HHD) is a rare autosomal dominant skin condition. The ATP2C1 gene was identified as the defective gene in HHD. To date, 166 pathogenic mutations in ATP2C1 have been observed worldwide. The aim of this study was to identify variations in HHD and summarize the featur...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Kejia, Shi, Bingjun, Diao, Qingchun, Jiang, Xue, Xiao, Yujuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687790/
https://www.ncbi.nlm.nih.gov/pubmed/29104283
http://dx.doi.org/10.12659/MSMBR.906137